[MIM 620 910]

Extremely rare. Autosomal recessive transmission of a mutation of the ZSCAN10 (or ZFP206) gene (16p13.3).

Association of :

-        moderate to severe developmental delay

-        behavioral disorders

-        facial asymmetry of variable severity, with unilateral decrease in facial muscle movement, epicanthus, down-slanting palpebral fissures, accompanied by unilateral external ear anomalies.

-         hearing disorders

-        sometimes: micropenis, cardiac malformation, anomalies of the semicircular canals of the inner ear.

Anesthetic implications:

risk of difficult intubation (facial asymmetry), hearing disorders

References :

-        Laugwitz L, Cheng F, Collins SC, Hustinx A,Navarro N, Welsch S, Cox H, Hsieh T-C et al.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain 2024: 147; 2471-82 |

Updated: October 2024